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急性髓系白血病分类有哪些新内容?

What is new in acute myeloid leukemia classification?

作者信息

Park Hee Sue

机构信息

Department of Laboratory Medicine, Chungbuk National University Hospital, 776, 1 Sunhwan-ro, Seowon-gu, Cheongju, Chungcheongbuk-do, 28644, Republic of Korea.

Department of Laboratory Medicine, Chungbuk National University College of Medicine, 776, 1 Sunhwan-ro, Seowon-gu, Cheongju, Chungcheongbuk-do, 28644, Republic of Korea.

出版信息

Blood Res. 2024 Apr 15;59(1):15. doi: 10.1007/s44313-024-00016-8.

DOI:10.1007/s44313-024-00016-8
PMID:38616211
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11016528/
Abstract

Recently, the International Consensus Classification (ICC) and the 5 edition of the World Health Organization classification (WHO2022) introduced diagnostically similar yet distinct approaches, which has resulted in practical confusion. This review compares these classification systems for acute myeloid leukemia (AML), building up on the revised 4th edition of WHO (WHO2016). Both classifications retain recurrent genetic abnormalities as a primary consideration. However, they differ in terms of blast threshold. The ICC mandates a minimum of 10% blasts in the bone marrow or peripheral blood, whereas the WHO2022 does not specify a blast cut-off. AML with BCR::ABL1 requires > 20% blast count in both classifications. In WHO2022, AML with CEBPA mutation requires > 20% blasts. TP53 mutation, a new entity is exclusive to ICC, diagnosed with > 20% blasts and variant allele frequency > 10%. AML with myelodysplasia-related changes is defined by cytogenetic or gene mutation-based criteria, not morphological dysplasia. Eight genes were common to both groups: ASXL1, BCOR, EZH2, SF3B1, SRSF2, STAG2, U2AF1, and ZRSR2. An additional gene, RUNX1, was included in the ICC classification. AML cases defined by differentiation (WHO2022) and AML not otherwise specified (ICC) are categorized as lacking specific defining genetic abnormalities, WHO2022 labels this as a myeloid neoplasm post cytotoxic therapy (MN-pCT), described as an appendix after specific diagnosis. Similarly, in ICC, it can be described as "therapy-related", without a separate AML category.

摘要

最近,国际共识分类(ICC)和世界卫生组织第5版分类(WHO2022)引入了诊断上相似但又不同的方法,这导致了实际应用中的困惑。本综述在世界卫生组织第4版修订版(WHO2016)的基础上,对这些急性髓系白血病(AML)分类系统进行了比较。两种分类都将复发性基因异常作为主要考虑因素。然而,它们在原始细胞阈值方面存在差异。ICC规定骨髓或外周血中原始细胞的最低比例为10%,而WHO2022未指定原始细胞的临界值。两种分类中,伴有BCR::ABL1的AML要求原始细胞计数>20%。在WHO2022中,伴有CEBPA突变的AML要求原始细胞>20%。TP53突变是ICC特有的新实体,诊断时原始细胞>20%且变异等位基因频率>10%。伴有骨髓发育异常相关改变的AML由基于细胞遗传学或基因突变的标准定义,而非形态学发育异常。两组共有8个基因:ASXL1、BCOR、EZH2、SF3B1、SRSF2、STAG2、U2AF1和ZRSR2。ICC分类中还包括另一个基因RUNX1。由分化定义的AML病例(WHO2022)和未另行指定的AML(ICC)被归类为缺乏特定的定义性基因异常,WHO2022将其标记为细胞毒性治疗后的髓系肿瘤(MN-pCT),在特定诊断后作为附录描述。同样,在ICC中,它可被描述为“与治疗相关”,没有单独的AML类别。

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